One of the great milestones of medicine, as I write in my new book She Has Her Mother’s Laugh, was the discovery that some diseases are inherited–even when the parents of sick children seem perfectly healthy.
These hereditary diseases, known as recessive disorders, manifest themselves when both copies of a gene carry a disabling mutation. They include cystic fibrosis and Tay-Sachs disease. But the most striking of them all is sickle cell anemia. An unusually high number of people in some parts of the world are carriers of the disease, because having a single copy of the sickle cell mutation can actually be good for your health. Continue reading “Friday’s Elk, March 10, 2018”